Parsons, MT, de la Hoya, M, Richardson, ME, Tudini, E, Anderson, M, Berkofsky-Fessler, W, Caputo, SM, Chan, RC, Cline, MS, Feng, BJ, Fortuno, C, Gomez-Garcia, E, Hadler, J, Hiraki, S, Holdren, M, Houdayer, C, Hruska, K, James, P, Karam, R, San Leong, H, Martins, A, Mensenkamp, AR, Monteiro, AN, Nathan, V, O'Connor, R, Pedersen, IS, Pesaran, T, Radice, P, Schmidt, G, Southey, M, Tavtigian, S, Thompson, BA, Toland, AE, Turnbull, C, Vogel, MJ, Weyandt, J, Wiggins, GAR, Zec, L, Couch, FJ, Walker, LC, Vreeswijk, MPG, Goldgar, DE, Spurdle, AB
AMERICAN JOURNAL OF HUMAN GENETICS. 2024;
DOI: 10.1016/j.ajhg.2024.07.013.Sanoguera-Miralles, L, Llinares-Burguet, I, Bueno-Martínez, E, Ramadane-Morchadi, L, Stuani, C, Valenzuela-Palomo, A, García-Alvarez, A, Pérez-Segura, P, Buratti, E, de la Hoya, M, Velasco-Sampedro, EA
JOURNAL OF PATHOLOGY. 2024; 395:409
DOI: 10.1002/path.6243.Sanoguera-Miralles, L, Valenzuela-Palomo, A, Bueno-Martínez, E, Esteban-Sánchez, A, Lorca, V, Llinares-Burguet, I, García-Alvarez, A, Pérez-Segura, P, Infante, M, Easton, DF, Devilee, P, Vreeswijk, MPG, de la Hoya, M, Velasco-Sampedro, EA
CLINICAL CHEMISTRY. 2024; 319:338
DOI: 10.1093/clinchem/hvad125.Porras, Luz-Marina, Padilla, Natalia, Moles-Fernandez, Alejandro, Feliubadalo, Lidia, Santamarina-Pena, Marta, Sanchez, Alysson T., Lopez-Novo, Anael, Blanco, Ana, de la Hoya, Miguel, Molina, Ignacio J., Osorio, Ana, Pineda, Marta, Rueda, Daniel, Ruiz-Ponte, Clara, Vega, Ana, Lazaro, Conxi, Diez, Orland, Gutierrez-Enriquez, Sara, de la Cruz, Xavier
JOURNAL OF MOLECULAR DIAGNOSTICS. 2024; 17:28
DOI: 10.1016/j.jmoldx.2023.09.009.O'Mahony, D, Zanti, M, Parsons, MT, Dennis, J, Fortuno, C, Vreeswijk, M, de la Hoya, M, Walker, L, Southey, MC, Devilee, P, James, P, Goldgar, DE, Easton, DF, Spurdle, AB, Michailidou, K
EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; 53:53
van Barele, M, Akdeniz, D, Heemskerk-Gerritsen, BAM, Genepso, Andrieu, N, Nogues, C, Hebon, van Asperen, CJ, Wevers, M, Ausems, MGEM, de Bock, GH, Dommering, CJ, Gomez-Garcia, EB, van Leeuwen, FE, Mooij, TM, Embrace, Easton, DF, Antoniou, AC, Evans, DG, Izatt, L, Tischkowitz, M, Frost, D, Brewer, C, Olah, E, Simard, J, Singer, CF, Thomassen, M, Kast, K, Rhiem, K, Engel, C, de la Hoya, M, Foretova, L, Jakubowska, A, Jager, A, Sattler, MGA, Schmidt, MK, Hooning, MJ
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. 2023; 1318:1328
DOI: 10.1093/jnci/djad116.Walker, LC, de la Hoya, M, Wiggins, GAR, Lindy, A, Vincent, LM, Parsons, MT, Canson, DM, Bis-Brewer, D, Cass, A, Tchourbanov, A, Zimmermann, H, Byrne, AB, Pesaran, T, Karam, R, Harrison, SM, Spurdle, AB
AMERICAN JOURNAL OF HUMAN GENETICS. 2023; 1046:1067
DOI: 10.1016/j.ajhg.2023.06.002.O'Mahony, DG, Ramus, SJ, Southey, MC, Meagher, NS, Hadjisavvas, A, John, EM, Hamann, U, Imyanitov, EN, Andrulis, IL, Sharma, P, Daly, MB, Hake, CR, Weitzel, JN, Jakubowska, A, Godwin, AK, Arason, A, Bane, A, Simard, J, Soucy, P, Caligo, MA, Mai, PL, Claes, KBM, Teixeira, MR, Chung, WK, Lazaro, C, Hulick, PJ, Toland, AE, Pedersen, IS, Neuhausen, SL, Vega, A, de la Hoya, M, Nevanlinna, H, Dhawan, M, Zampiga, V, Danesi, R, Varesco, L, Gismondi, V, Vellone, VG, James, PA, Janavicius, R, Nikitina-Zake, L, Nielsen, FC, Hansen, TV, Pejovic, T, Borg, A, Rantala, J, Offit, K, Montagna, M, Nathanson, KL, Domchek, SM, Osorio, A, Garcia, MJ, Karlan, BY, De Fazio, A, Bowtell, D, McGuffog, L, Leslie, G, Parsons, MT, Dork, T, Speith, LM, dos Santos, ES, da Costa, AABA, Radice, P, Peterlongo, P, Papi, L, Engel, C, Hahnen, E, Schmutzler, RK, Wappenschmidt, B, Easton, DF, Tischkowitz, M, Singer, CF, Tan, YY, Whittemore, AS, Sieh, W, Brenton, JD, Yannoukakos, D, Fostira, F, Konstantopoulou, I, Soukupova, J, Vocka, M, Chenevix-Trench, G, Pharoah, PDP, Antoniou, AC, Goldgar, DE, Spurdle, AB, Michailidou, K, Mourits, MJE, Lesueur, F
BRITISH JOURNAL OF CANCER. 2023; 2283:2294
DOI: 10.1038/s41416-023-02263-5.Kast, KM, John, EM, Hopper, JL, Andrieu, N, Nogues, C, Mouret-Fourme, E, Lasset, C, Fricker, JP, Berthet, P, Mari, V, Salle, L, Schmidt, MK, Ausems, MGEM, Garcia, EBG, van de Beek, I, Wevers, MR, Evans, DG, Tischkowitz, M, Lalloo, F, Cook, J, Izatt, L, Tripathi, V, Snape, K, Musgrave, H, Sharif, S, Murray, J, Colonna, SV, Andrulis, IL, Daly, MB, Southey, MC, de la Hoya, M, Osorio, A, Foretova, L, Berkova, D, Gerdes, AM, Olah, E, Jakubowska, A, Singer, CF, Tan, Y, Augustinsson, A, Rantala, J, Simard, J, Schmutzler, RK, Milne, RL, Phillips, KA, Terry, MB, Goldgar, D, van Leeuwen, FE, Mooij, TM, Antoniou, AC, Easton, DF, Rookus, MA, Engel, C
BREAST CANCER RESEARCH. 2023;
DOI: 10.1186/s13058-023-01673-w.Sanoguera-Miralles, L, Valenzuela-Palomo, A, Bueno-Martínez, E, Esteban-Sánchez, A, Llinares-Burguet, I, Garcia-Alvarez, A, Easton, DF, Devilee, P, Vreeswijk, M, de la Hoya, M, Velasco, EA
EUROPEAN JOURNAL OF HUMAN GENETICS. 2023; 550:550
Domènech-Vivó, J, Tubeuf, H, Mesman, RLS, Drouet, A, Girardi, M, Alonso-Cerezo, MC, Baralle, D, Boutry-Kryza, N, Bunyan, D, Byers, HJ, Claes, K, Evans, DG, de la Hoya, M, Krieger, S, Lazaro, C, Leone, M, Machackova, E, Menéndez, M, Moles-Fernández, A, Montalban, G, van Veen, E, Balmaña, J, Spurdle, AB, Diez, O, Vreeswijk, M, Martins, A, Gutiérrez-Enríquez, S
EUROPEAN JOURNAL OF HUMAN GENETICS. 2023; 532:533
Olivera-Salguero, R, Segui, E, Cejalvo, JM, Oliveira, M, Tolosa, P, Vidal, M, Malumbres, M, Gavila, J, Saura, C, Pernas, S, Lopez, R, Margeli, M, Balmana, J, Munoz, M, Blancas, I, Boni, V, Ciruelos, E, Galve, E, Perello, A, Sanchez-Bayona, R, de la Cruz, S, de la Hoya, M, Galvan, P, Sanfeliu, E, Gonzalez-Farre, B, Sirenko, V, Blanch-Torras, A, Canes, J, Masanas, H, Olmos, R, Forns, M, Prat, A, Casas, A, Pascual, T
Frontiers in Oncology. 2023;
DOI: 10.3389/fonc.2023.1151496.Canson, DM, Davidson, AL, de la Hoya, M, Parsons, MT, Glubb, DM, Kondrashova, O, Spurdle, AB
Bioinformatics. 2023;
DOI: 10.1093/bioinformatics/btad179.Mayoral, IH, Santiago, AA, Sanchez-Zapardiel, JM, Calero, BH, de la Hoya, M, Gomez-Sanz, A, Reyes, MD, Robles, L
GENES. 2023;
DOI: 10.3390/genes14020502.Marchena-Perea, EM, Salazar-Hidalgo, ME, Gomez-Sanz, A, Arranz-Ledo, M, Barroso, A, Fernandez, V, Tejera-Perez, H, Pita, G, Nunez-Torres, R, Pombo, L, Morales-Chamorro, R, Cano-Cano, JM, Soriano, MD, Garre, P , Duran, M, Curras-Freixes, M, de la Hoya, M, Osorio, A
Cancers. 2022;
DOI: 10.3390/cancers14194738.Bueno-Martinez, E, Sanoguera-Miralles, L, Valenzuela-Palomo, A, Esteban-Sanchez, A, Lorca, V, Llinares-Burguet, I, Allen, J, Garcia-Alvarez, A, Perez-Segura, P, Duran, M, Easton, DF, Devilee, P, Vreeswijk, MPG, de la Hoya, M, Velasco-Sampedro, EA
JOURNAL OF PATHOLOGY. 2022; 83:101
DOI: 10.1002/path.5979.Valenzuela-Palomo, A, Sanoguera-Miralles, L, Bueno-Martinez, E, Esteban-Sanchez, A, Llinares-Burguet, I, Garcia-Alvarez, A, Perez-Segura, P, Gomez-Barrero, S, de la Hoya, M, Velasco-Sampedro, EA
Cancers. 2022;
DOI: 10.3390/cancers14184541.Sanoguera-Miralles, L, Bueno-Martinez, E, Valenzuela-Palomo, A, Esteban-Sanchez, A, Llinares-Burguet, I, Perez-Segura, P, Garcia-Alvarez, A, de la Hoya, M, Velasco-Sampedro, EA
Cancers. 2022;
DOI: 10.3390/cancers14122960.Dorling, L, Carvalho, S, Allen, J, Parsons, MT, Fortuno, C, Gonzalez-Neira, A, Heijl, SM, Adank, MA, Ahearn, TU, Andrulis, IL, Auvinen, P, Becher, H, Beckmann, MW, Behrens, S, Bermisheva, M, Bogdanova, NV, Bojesen, SE, Bolla, MK, Bremer, M, Briceno, I, Camp, NJ, Campbell, A, Castelao, JE, Chang-Claude, J, Chanock, SJ, Chenevix-Trench, G, Collee, JM, Czene, K, Dennis, J, Dork, T, Eriksson, M, Evans, DG, Fasching, PA, Figueroa, J, Flyger, H, Gabrielson, M, Gago-Dominguez, M, Garcia-Closas, M, Giles, GG, Glendon, G, Guenel, P, Gundert, M, Hadjisavvas, A, Hahnen, E, Hall, P, Hamann, U, Harkness, EF, Hartman, M, Hogervorst, FBL, Hollestelle, A, Hoppe, R, Howell, A, Jakubowska, A, Jung, A, Khusnutdinova, E, Kim, SW, Ko, YD, Kristensen, VN, Lakeman, IMM, Li, JM, Lindblom, A, Loizidou, MA, Lophatananon, A, Lubinski, J, Luccarini, C, Madsen, MJ, Mannermaa, A, Manoochehri, M, Margolin, S, Mavroudis, D, Milne, RL, Taib, NAM, Muir, K, Nevanlinna, H, Newman, WG, Oosterwijk, JC, Park, SK, Peterlongo, P, Radice, P, Saloustros, E, Sawyer, EJ, Schmutzler, RK, Shah, MT, Sim, X, Southey, MC, Surowy, H, Suvanto, M, Tomlinson, I, Torres, D, Truong, T, van Asperen, CJ, Waltes, R, Wang, Q, Yang, XHR, Pharoah, PDP, Schmidt, MK, Benitez, J, Vroling, B, Dunning, AM, Teo, SH, Kvist, A, de la Hoya, M, Devilee, P, Spurdle, AB, Vreeswijk, MPG, Easton, DF
GENOME MEDICINE. 2022;
DOI: 10.1186/s13073-022-01052-8.Li, S, Silvestri, V, Leslie, G, Rebbeck, TR, Neuhausen, SL, Hopper, JL, Nielsen, HR, Lee, A, Yang, X, McGuffog, L, Parsons, MT, Andrulis, IL, Arnold, N, Belotti, M, Borg, A, Buecher, B, Buys, SS, Caputo, SM, Chung, WK, Colas, C, Colonna, SV, Cook, J, Daly, MB, de la Hoya, M, de Pauw, A, Delhomelle, H, Eason, J, Engel, C, Evans, DG, Faust, U, Fehm, TN, Fostira, F, Fountzilas, G, Frone, M, Garcia-Barberan, V, Garre, P , Gauthier-Villars, M, Gehrig, A, Glendon, G, Goldgar, DE, Golmard, L, Greene, MH, Hahnen, E, Hamann, U, Hanson, H, Hassan, T, Hentschel, J, Horvath, J, Izatt, L, Janavicius, R, Jiao, Y, John, EM, Karlan, BY, Kim, SW, Konstantopoulou, I, Kwong, A, Lauge, A, Lee, JW, Lesueur, F, Mebirouk, N, Meindl, A, Mouret-Fourme, E, Musgrave, H, Yie, JNY, Niederacher, D, Park, SK, Pedersen, IS, Ramser, J, Ramus, SJ, Rantala, J, Rashid, MU, Reichl, F, Ritter, J, Rump, A, Santamarina, M, Saule, C, Schmidt, G, Schmutzler, RK, Senter, L, Shariff, S, Singer, CF, Southey, MC, Stoppa-Lyonnet, D, Sutter, C, Tan, Y, Teo, SH, Terry, MB, Thomassen, M, Tischkowitz, M, Toland, AE, Torres, D, Vega, A, Wagner, SA, Wang-Gohrke, S, Wappenschmidt, B, Weber, BHF, Yannoukakos, D, Spurdle, AB, Easton, DF, Chenevix-Trench, G, Ottini, L, Antoniou, AC
JOURNAL OF CLINICAL ONCOLOGY. 2022;
DOI: 10.1200/JCO.21.02112.Dareng, EO, Tyrer, JP, Barnes, DR, Jones, MR, Yang, X, Aben, KKH, Adank, MA, Agata, S, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Aravantinos, G, Arun, BK, Augustinsson, A, Balmana, J, Bandera, EV, Barkardottir, RB, Barrowdale, D, Beckmann, MW, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, MQ, Bjorge, L, Black, A, Bogdanova, NV, Bonanni, B, Borg, A, Brenton, JD, Budzilowska, A, Butzow, R, Buys, SS, Cai, H, Caligo, MA, Campbell, I, Cannioto, R, Cassingham, H, Chang-Claude, J, Chanock, SJ, Chen, KX, Chiew, YE, Chung, WK, Claes, KBM, Colonna, S, Cook, LS, Couch, FJ, Daly, MB, Dao, F, Davies, E, de la Hoya, M, de Putter, R, Dennis, J, DePersia, A, Devilee, P, Diez, O, Ding, YC, Doherty, JA, Domchek, SM, Dork, T, du Bois, A, Durst, M, Eccles, DM, Eliassen, HA, Engel, C, Evans, GD, Fasching, PA, Flanagan, JM, Fortner, R, Machackova, E, Friedman, E, Ganz, PA, Garber, J, Gensini, F, Giles, GG, Glendon, G, Godwin, AK, Goodman, MT, Greene, MH, Gronwald, J, Group, OS, AOCSGroup, Hahnen, E, Haiman, CA, Hakansson, N, Hamann, U, Hansen, TVO, Harris, HR, Hartman, M, Heitz, F, Hildebrandt, MAT, Hogdall, E, Hogdall, CK, Hopper, JL, Huang, RY, Huff, C, Hulick, PJ, Huntsman, DG, Imyanitov, EN, Isaacs, C, Jakubowska, A, James, PA, Janavicius, R, Jensen, A, Johannsson, OT, John, EM, Jones, ME, Kang, D, Karlan, BY, Karnezis, A, Kelemen, LE, Khusnutdinova, E, Kiemeney, LA, Kim, BG, Kjaer, SK, Komenaka, I, Kupryjanczyk, J, Kurian, AW, Kwong, A, Lambrechts, D, Larson, MC, Lazaro, C, Le, ND, Leslie, G, Lester, J, Lesueur, F, Levine, DA, Li, L, Li, JM, Loud, JT, Lu, KH, Mai, PL, Manoukian, S, Marks, JR, KimMatsuno, R, Matsuo, K, May, T, McGuffog, L, McLaughlin, JR, McNeish, IA, Mebirouk, N, Menon, U, Miller, A, Milne, RL, Minlikeeva, A, Modugno, F, Montagna, M, Moysich, KB, Munro, E, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Yie, JNY, Nielsen, HR, Nielsen, FC, Nikitina-Zake, L, Odunsi, K, Offit, K, Olah, E, Olbrecht, S, Olopade, OI, Olson, SH, Olsson, H, Osorio, A, Papi, L, Park, SK, Parsons, MT, Pathak, H, Pedersen, IS, Peixoto, A, Pejovic, T, Perez-Segura, P, Permuth, JB, Peshkin, B, Peterlongo, P, Piskorz, A, Prokofyeva, D, Radice, P, Rantala, J, Riggan, MJ, Risch, HA, Rodriguez-Antona, C, Ross, E, Rossing, MA, Runnebaum, I, Sandler, DP, Santamarina, M, Soucy, P, Schmutzler, RK, Setiawan, VW, Shan, K, Sieh, W, Simard, J, Singer, CF, Sokolenko, AP, Song, H, Southey, MC, Steed, H, Stoppa-Lyonnet, D, Sutphen, R, Swerdlow, AJ, Tan, YY, Teixeira, MR, Teo, SH, Terry, KL, BethTerry, M, Thomassen, M, Thompson, PJ, Thomsen, LCV, Thull, DL, Tischkowitz, M, Titus, L, Toland, AE, Torres, D, Trabert, B, Travis, R, Tung, N, Tworoger, SS, Valen, E, van Altena, AM, van der Hout, AH, Nieuwenhuysen, E, van Rensburg, EJ, Vega, A, Edwards, DV, Vierkant, RA, Wang, F, Wappenschmidt, B, Webb, PM, Weinberg, CR, Weitzel, JN, Wentzensen, N, White, E, Whittemore, AS, Winham, SJ, Wolk, A, Woo, YL, Wu, AH, Yan, L, Yannoukakos, D, Zavaglia, KM, Zheng, W, Ziogas, A, Zorn, KK, Kleibl, Z, Easton, D, Lawrenson, K, DeFazio, A, Sellers, TA, Ramus, SJ, Pearce, CL, Monteiro, AN, Cunningham, J, Goode, EL, Schildkraut, JM, Berchuck, A, Chenevix-Trench, G, Gayther, SA, Antoniou, AC, Pharoah, PDP, GEMO Study Collaborators, GC-HBOC Study Collaborators, EMBRACE Collaborators, KConFab Investigators, Hebon Investigators, OCAC Consortium, CIMBA Consortium
EUROPEAN JOURNAL OF HUMAN GENETICS. 2022; 349:362
DOI: 10.1038/s41431-021-00987-7.Valenzuela-Palomo, A, Bueno-Martinez, E, Sanoguera-Miralles, L, Lorca, V, Fraile-Bethencourt, E, Esteban-Sanchez, A, Gomez-Barrero, S, Carvalho, S, Allen, J, Garcia-Alvarez, A, Perez-Segura, P, Dorling, L, Easton, DF, Devilee, P, Vreeswijk, MPG, de la Hoya, M, Velasco, EA
JOURNAL OF PATHOLOGY. 2022; 321:334
DOI: 10.1002/path.5839.Barnes, DR, Silvestri, V, Leslie, G, McGuffog, L, Dennis, J, Yang, X, Adlard, J, Agnarsson, BA, Ahmed, M, Aittomaki, K, Andrulis, IL, Arason, A, Arnold, N, Auber, B, Azzollini, J, Balmana, J, Barkardottir, RB, Barrowdale, D, Barwell, J, Belotti, M, Benitez, J, Berthet, P, Boonen, SE, Borg, A, Bozsik, A, Brady, AF, Brennan, P, Brewer, C, Brunet, J, Bucalo, A, Buys, SS, Caldes, T, Caligo, MA, Campbell, I, Cassingham, H, Christensen, LL, Cini, G, Claes, KBM, Cook, J, Coppa, A, Cortesi, L, Damante, G, Darder, E, Davidson, R, de la Hoya, M, De Leeneer, K, de Putter, R, Del Valle, J, Diez, O, Ding, YC, Domchek, SM, Donaldson, A, Eason, J, Eeles, R, Engel, C, Evans, DG, Feliubadalo, L, Fostira, F, Frone, M, Frost, D, Gallagher, D, Gehrig, A, Giraud, S, Glendon, G, Godwin, AK, Goldgar, DE, Greene, MH, Gregory, H, Gross, E, Hahnen, E, Hamann, U, Hansen, TVO, Hanson, H, Hentschel, J, Horvath, J, Izatt, L, Izquierdo, A, James, PA, Janavicius, R, Jensen, UB, Johannsson, OT, John, EM, Kramer, G, Kroeldrup, L, Kruse, TA, Lautrup, C, Lazaro, C, Lesueur, F, Lopez-Fernandez, A, Mai, PL, Manoukian, S, Matrai, Z, Matricardi, L, Maxwell, KN, Mebirouk, N, Meindl, A, Montagna, M, Monteiro, AN, Morrison, PJ, Muranen, TA, Murray, A, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Tu, ND, Niederacher, D, Olah, E, Olopade, OI, Palli, D, Parsons, MT, Pedersen, IS, Peissel, B, Perez-Segura, P, Peterlongo, P, Petersen, AH, Pinto, P, Porteous, ME, Pottinger, C, Pujana, MA, Radice, P, Ramser, J, Rantala, J, Robson, M, Rogers, MT, Ronlund, K, Rump, A, de Abajo, AMS, Shah, PD, Sharif, S, Side, LE, Singer, CF, Stadler, Z, Steele, L, Stoppa-Lyonnet, D, Sutter, C, Tan, YY, Teixeira, MR, Teule, A, Thull, DL, Tischkowitz, M, Toland, AE, Tommasi, S, Toss, A, Trainer, AH, Tripathi, V, Valentini, V, van Asperen, CJ, Venturelli, M, Viel, A, Vijai, J, Walker, L, Wang-Gohrke, S, Wappenschmidt, B, Whaite, A, Zanna, I, Offit, K, Thomassen, M, Couch, FJ, Schmutzler, RK, Simard, J, Easton, DF, Chenevix-Trench, G, Antoniou, AC, Ottini, L
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. 2022; 109:122
DOI: 10.1093/jnci/djab147.Li, HY, Engel, C, de la Hoya, M, Peterlongo, P, Yannoukakos, D, Livraghi, L, Radice, P, Thomassen, M, Hansen, TVO, Gerdes, AM, Nielsen, HR, Caputo, SM, Zambelli, A, Borg, A, Solano, A, Thomas, A, Parsons, MT, Antoniou, AC, Leslie, G, Yang, X, Chenevix-Trench, G, Caldes, T, Kwong, A, Pedersen, IS, Lautrup, CK, John, EM, Terry, MB, Hopper, JL, Southey, MC, Andrulis, IL, Tischkowitz, M, Janavicius, R, Boonen, SE, Kroeldrup, L, Varesco, L, Hamann, U, Vega, A, Palmero, EI, Garber, J, Montagna, M, Van Asperen, CJ, Foretova, L, Greene, MH, Selkirk, T, Moller, P, Toland, AE, Domchek, SM, James, PA, Thorne, H, Eccles, DM, Nielsen, SM, Manoukian, S, Pasini, B, Caligo, MA, Lazaro, C, Kirk, J, Wappenschmidt, B, Spurdle, AB, Couch, FJ, Schmutzler, R, Goldgar, DE
GENETICS IN MEDICINE. 2022; 119:129
DOI: 10.1016/j.gim.2021.08.016.de Garibay, GR, Fernandez-Garcia, I, Mazoyer, S, de Calais, FL, Ameri, P, Vijayakumar, S, Martinez-Ruiz, H, Damiola, F, Barjhoux, L, Thomassen, M, Andersen, LVB, Herranz, C, Mateo, F, Palomero, L, Espin, R, Gomez, A, Garcia, N, Jimenez, D, Bonifaci, N, Extremera, AI, Castano, J, Raya, A, Eyras, E, Puente, XS, Brunet, J, Lazaro, C, Radice, P, Barnes, DR, Antoniou, AC, Spurdle, AB, de la Hoya, M, Baralle, D, Barcellos-Hoff, MH, Pujana, MA, GEMO, CIMBA
HUMAN MUTATION. 2021; 1488:1502
DOI: 10.1002/humu.24276.Noblejas-Lopez, MD, Lopez-Cade, I, Fuentes-Antras, J, FERNANDEZ-HINOJAL, G, Esteban-Sanchez, A, Manzano, A , Garcia-Saenz, JA, Perez-Segura, P, de la Hoya, M, Pandiella, A, Gyorffy, B, Garcia-Barberan, V, Ocana, A
Cancers. 2021;
DOI: 10.3390/cancers13164118.Bueno-Martinez, E, Sanoguera-Miralles, L, Valenzuela-Palomo, A, Lorca, V, Gomez-Sanz, A, Carvalho, S, Allen, J, Infante, M, Perez-Segura, P, Lazaro, C, Easton, DF, Devilee, P, Vreeswijk, MPG, de la Hoya, M, Velasco, EA
Cancers. 2021;
DOI: 10.3390/cancers13112845.Feliubadalo, L, Moles-Fernandez, A, Santamarina-Pena, M, Sanchez, AT, Lopez-Novo, A, Porras, LM, Blanco, A, Capella, G, de la Hoya, M, Molina, IJ, Osorio, A, Pineda, M, Rueda, D, de la Cruz, X, Diez, O, Ruiz-Ponte, C, Gutierrez-Enriquez, S, Vega, A, Lazaro, C
CLINICAL CHEMISTRY. 2021; 518:533
DOI: 10.1093/clinchem/hvaa250.Martin-Morales, L, Garre, P , Lorca, V, Cazorla, M, Llovet, P, Bando, I, Garcia-Barberan, V, Gonzalez-Morales, ML, Esteban-Jurado, C, de la Hoya, M, Castellvi-Bel, S, Caldes, T
CANCER PREVENTION RESEARCH. 2021; 165:173
DOI: 10.1158/1940-6207.CAPR-20-0316.Yang, X, Song, HL, Leslie, G, Engel, C, Hahnen, E, Auber, B, Horvath, J, Kast, K, Niederacher, D, Turnbull, C, Houlston, R, Hanson, H, Loveday, C, Dolinsky, JS, LaDuca, H, Ramus, SJ, Menon, U, Rosenthal, AN, Jacobs, I, Gayther, SA, Dicks, E, Nevanlinna, H, Aittomaki, K, Pelttari, LM, Ehrencrona, H, Borg, A, Kvist, A, Rivera, B, Hansen, TVO, Djursby, M, Lee, A, Dennis, J, Bowtell, DD, Traficante, N, Diez, O, Balmana, J, Gruber, SB, Chenevix-Trench, G, Jensen, A, Kjaer, SK, Hogdall, E, Castera, L, Garber, J, Janavicius, R, Osorio, A, Golmard, L, Vega, A, Couch, FJ, Robson, M, Gronwald, J, Domchek, SM, Culver, JO, de la Hoya, M, Easton, DF, Foulkes, WD, Tischkowitz, M, Meindl, A, Schmutzler, RK, Pharoah, PDP, Antoniou, AC, KConFab Investigators
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. 2020; 1242:1250
DOI: 10.1093/jnci/djaa030.Feliubadalo, L, Pena, MS, Porras, L, Moles-Fernandez, A, Sanchez, A, Blanco, A, Diez, O, Gutierrez-Enriquez, S, de la Hoya, M, Lopez-Novo, A, Osorio, A, Pineda, M, Rueda, D, Ruiz-Ponte, C, Vega, A, Molina, IJ, de la Cruz, X, Lazaro, C
EUROPEAN JOURNAL OF HUMAN GENETICS. 2020; 115:116
Sanoguera-Miralles, L, Valenzuela-Palomo, A, Bueno-Martinez, E, Llovet, P, Diez-Gomez, B, Caloca, MJ, Perez-Segura, P, Fraile-Bethencourt, E, Colmena, M, Carvalho, S, Allen, J, Easton, DF, Devilee, P, Vreeswijk, MPG, de la Hoya, M, Velasco, EA
Cancers. 2020;
DOI: 10.3390/cancers12123771.Tuazon, AMD, Lott, P, Bohorquez, M, Benavides, J, Ramirez, C, Criollo, A, Estrada-Florez, A, Mateus, G, Velez, A, Carmona, J, Olaya, J, Garcia, E, Polanco-Echeverry, G, Stultz, J, Alvarez, C, Tapia, T, Ashton-Prolla, P, Vega, A, Lazaro, C, Tornero, E, Martinez-Bouzas, C, Infante, M, De La Hoya, M, Diez, O, Browning, BL, Rannala, B, Teixeira, MR, Carvallo, P, Echeverry, M, Carvajal-Carmona, LG, Brazilian Familial Canc Network, COLUMBUS Consortium
BREAST CANCER RESEARCH. 2020;
DOI: 10.1186/s13058-020-01341-3.Barnes, DR, Rookus, MA, McGuffog, L, Leslie, G, Mooij, TM, Dennis, J, Mavaddat, N, Adlard, J, Ahmed, M, Aittomaki, K, Andrieu, N, Andrulis, IL, Arnold, N, Arun, BK, Azzollini, J, Balmana, J, Barkardottir, RB, Barrowdale, D, Benitez, J, Berthet, P, Bialkowska, K, Blanco, AM, Blok, MJ, Bonanni, B, Boonen, SE, Borg, A, Bozsik, A, Bradbury, AR, Brennan, P, Brewer, C, Brunet, J, Buys, SS, Caldes, T, Caligo, MA, Campbell, I, Christensen, LL, Chung, WK, Claes, KBM, Colas, C, Collonge-Rame, MA, Cook, J, Daly, MB, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Devilee, P, Diez, O, Ding, YC, Domchek, SM, Dorfling, CM, Dumont, M, Eeles, R, Ejlertsen, B, Engel, C, Evans, DG, Faivre, L, Foretova, L, Fostira, F, Friedlander, M, Friedman, E, Frost, D, Ganz, PA, Garber, J, Gehrig, A, Gerdes, AM, Gesta, P, Giraud, S, Glendon, G, Godwin, AK, Goldgar, DE, Gonzalez-Neira, A, Greene, MH, Gschwantler-Kaulich, D, Hahnen, E, Hamann, U, Hanson, H, Hentschel, J, Hogervorst, FBL, Hooning, MJ, Horvath, J, Hu, CL, Hulick, PJ, Imyanitov, EN, Isaacs, C, Izatt, L, Izquierdo, A, Jakubowska, A, James, PA, Janavicius, R, John, EM, Joseph, V, Karlan, BY, Kast, K, Koudijs, M, Kruse, TA, Kwong, A, Laitman, Y, Lasset, C, Lazaro, C, Lester, J, Lesueur, F, Liljegren, A, Loud, JT, Lubinski, J, Mai, PL, Manoukian, S, Mari, V, Mebirouk, N, Meijers-Heijboer, HEJ, Meindl, A, Mensenkamp, AR, Miller, A, Montagna, M, Mouret-Fourme, E, Mukherjee, S, Mulligan, AM, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Niederacher, D, Nielsen, FC, Nikitina-Zake, L, Nogues, C, Olah, E, Olopade, OI, Ong, KR, O'Shaughnessy-Kirwan, A, Osorio, A, Ott, CE, Papi, L, Park, SK, Parsons, MT, Pedersen, IS, Peissel, B, Peixoto, A, Peterlongo, P, Pfeiler, G, Phillips, KA, Prajzendanc, K, Pujana, MA, Radice, P, Ramser, J, Ramus, SJ, Rantala, J, Rennert, G, Risch, HA, Robson, M, Ronlund, K, Salani, R, Schuster, H, Senter, L, Shah, PD, Sharma, P, Side, LE, Singer, CF, Slavin, TP, Soucy, P, Southey, MC, Spurdle, AB, Steinemann, D, Steinsnyder, Z, Stoppa-Lyonnet, D, Sutter, C, Tan, YY, Teixeira, MR, Teo, SH, Thull, DL, Tischkowitz, M, Tognazzo, S, Toland, AE, Trainer, AH, Tung, N, van Engelen, K, van Rensburg, EJ, Vega, A, Vierstraete, J, Wagner, G, Walker, L, Wang-Gohrke, S, Wappenschmidt, B, Weitzel, JN, Yadav, S, Yang, X, Yannoukakos, D, Zimbalatti, D, Offit, K, Thomassen, M, Couch, FJ, Schmutzler, RK, Simard, J, Easton, DF, Chenevix-Trench, G, Antoniou, AC, GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, GENEPSO Investigators, Consortium Investigators Modifiers
GENETICS IN MEDICINE. 2020; 1653:1666
DOI: 10.1038/s41436-020-0862-x.Mesman, RLS, Calleja, FMGR, de la Hoya, M, Devilee, P, van Asperen, CJ, Vrieling, H, Vreeswijk, MPG
GENETICS IN MEDICINE. 2020; 1355:1365
DOI: 10.1038/s41436-020-0814-5.Mesman, RLS, Calleja, FMGR, de la Hoya, M, Devilee, P, van Asperen, CJ, Vrieling, H, Vreeswijk, MPG
GENETICS IN MEDICINE. 2020; 1427:1427
DOI: 10.1038/s41436-020-0883-5.Feng, HL, Gusev, A, Pasaniuc, B, Wu, L, Long, JR, Abu-full, Z, Aittomaki, K, Andrulis, IL, Anton-Culver, H, Antoniou, AC, Arason, A, Arndt, V, Aronson, KJ, Arun, BK, Asseryanis, E, Auer, PL, Azzollini, J, Balmana, J, Barkardottir, RB, Barnes, DR, Barrowdale, D, Beckmann, MW, Behrens, S, Benitez, J, Bermisheva, M, Bialkowska, K, Blanco, A, Blomqvist, C, Boeckx, B, Bogdanova, NV, Bojesen, SE, Bolla, MK, Bonanni, B, Borg, A, Brauch, H, Brenner, H, Briceno, I, Broeks, A, Bruening, Thomas, Burwinkel, B, Cai, QY, Caldes, T, Caligo, MA, Campbell, I, Canisius, S, Campa, D, Carter, BD, Carter, J, Castelao, JE, Chang-Claude, J, Chanock, SJ, Christiansen, H, Chung, WK, Claes, KBM, Clarke, CL, Couch, FJ, Cox, A, Cross, SS, Cybulski, C, Czene, K, Daly, MB, de la Hoya, M, De Leeneer, K, Dennis, J, Devilee, P, Diez, O, Domchek, SM, Doerk, Thilo, dos-Santos-Silva, I, Dunning, AM, Dwek, M, Eccles, DM, Ejlertsen, B, Ellberg, C, Engel, C, Eriksson, M, Fasching, PA, Fletcher, O, Flyger, H, Fostira, F, Friedman, E, Fritschi, L, Frost, D, Gabrielson, M, Ganz, PA, Gapstur, SM, Garber, J, Garcia-Closas, M, Garcia-Saenz, JA, Gaudet, MM, Giles, GG, Glendon, G, Godwin, AK, Goldberg, MS, Goldgar, DE, Gonzalez-Neira, A, Greene, MH, Gronwald, J, Guenel, P, Haiman, CA, Hall, P, Hamann, U, Hake, C, He, W, Heyworth, J, Hogervorst, FBL, Hollestelle, A, Hooning, MJ, Hoover, RN, Hopper, JL, Huang, GMQ, Hulick, PJ, Humphreys, K, Imyanitov, EN, Isaacs, C, Jakimovska, M, Jakubowska, A, James, P, Janavicius, R, Jankowitz, RC, John, EM, Johnson, N, Joseph, V, Jung, AR, Karlan, BY, Khusnutdinova, E, Kiiski, JI, Konstantopoulou, I, Kristensen, VN, Laitman, Y, Lambrechts, D, Lazaro, C, Leroux, D, Leslie, G, Lester, J, Lesueur, F, Lindor, N, Lindstrom, S, Lo, WY, Loud, JT, Lubinski, J, Makalic, E, Mannermaa, A, Manoochehri, M, Manoukian, S, Margolin, S, Martens, JWM, Martinez, ME, Matricardi, L, Maurer, T, Mavroudis, D, McGuffog, L, Meindl, A, Menon, U, Michailidou, K, Kapoor, PM, Miller, A, Montagna, M, Moreno, F, Moserle, L, Mulligan, AM, Muranen, TA, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Nevelsteen, I, Nielsen, FC, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, OI, Olsson, H, Osorio, A, Papp, J, Park-Simon, TW, Parsons, MT, Pedersen, IS, Peixoto, A, Peterlongo, P, Peto, J, Pharoah, PDP, Phillips, KA, Plaseska-Karanfilska, D, Poppe, B, Pradhan, N, Prajzendanc, K, Presneau, N, Punie, K, Pylkas, K, Radice, P, Rantala, J, Rashid, MU, Rennert, G, Risch, HA, Robson, M, Romero, A, Saloustros, E, Sandler, DP, Santos, C, Sawyer, EJ, Schmidt, MK, Schmidt, DF, Schmutzler, RK, Schoemaker, MJ, Scott, RJ, Sharma, P, Shu, XO, Simard, J, Singer, CF, Skytte, AB, Soucy, P, Southey, MC, Spinelli, JJ, Spurdle, AB, Stone, J, Swerdlow, AJ, Tapper, WJ, Taylor, JA, Teixeira, MR, Terry, MB, Teule, A, Thomassen, M, Thoene, Kathrin, Thull, DL, Tischkowitz, M, Toland, AE, Tollenaar, RAEM, Torres, D, Truong, T, Tung, ND, Vachon, CM, van Asperen, CJ, van den Ouweland, AMW, van Rensburg, EJ, Vega, A, Viel, A, Vieiro-Balo, P, Wang, Q, Wappenschmidt, B, Weinberg, CR, Weitzel, JN, Wendt, C, Winqvist, R, Yang, XHR, Yannoukakos, D, Ziogas, A, Milne, RL, Easton, DF, Chenevix-Trench, G, Zheng, W, Kraft, P, Jiang, X, GEMO Study Collaborators, EMBRACE Collaborators, GC-HBOC Study Collaborators, ABCTB Investigators, HEBON Investigators, BCFR Investigators, OCGN Investigators
GENETIC EPIDEMIOLOGY. 2020; 442:468
DOI: 10.1002/gepi.22288.Palacios, J, de la Hoya, M, Bellosillo, B, de Juan, I, Matias-Guiu, X, Lazaro, C, Palanca, S, Osorio, A, Rojo, F, Rosa-Rosa, JM, Cigudosa, JC
VIRCHOWS ARCHIV. 2020; 195:207
DOI: 10.1007/s00428-019-02709-3.Patel, VL, Busch, EL, Friebel, TM, Cronin, A, Leslie, G, McGuffog, L, Adlard, J, Agata, S, Agnarsson, BA, Ahmed, M, Aittomäki K, Alducci, E, Andrulis, IL, Arason, A, Arnold, N, Artioli, G, Arver, B, Auber, B, Azzollini, J, Balmaña J, Barkardottir, RB, Barnes, DR, Barroso, A, Barrowdale, D, Belotti, M, Benitez, J, Bertelsen, B, Blok, MJ, Bodrogi, I, Bonadona, V, Bonanni, B, Bondavalli, D, Boonen, SE, Borde, J, Borg, A, Bradbury, AR, Brady, A, Brewer, C, Brunet, J, Buecher, B, Buys, SS, Cabezas-Camarero, S, Caldes, T, Caliebe, A, Caligo, MA, Calvello, M, Campbell, IG, Carnevali, I, Carrasco, E, Chan, TL, Chu ATW, Chung, WK, Claes KBM, Collaborators GS, Collaborators E, Cook J, Cortesi L, Couch FJ, Daly MB, Damante G, Darder E, Davidson R, de la Hoya M, Puppa LD, Dennis J, Díez O, Ding YC, Ditsch N, Domchek SM, Donaldson A, Dworniczak B, Easton DF, Eccles DM, Eeles RA, Ehrencrona H, Ejlertsen B, Engel C, Evans DG, Faivre L, Faust U, Feliubadaló L, Foretova L, Fostira F, Fountzilas G, Frost D, García-Barberán V, Garre P, Gauthier-Villars M, Géczi L, Gehrig A, Gerdes AM, Gesta P, Giannini G, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gutierrez-Barrera AM, Hahnen E, Hamann U, Hauke J, Herold N, Hogervorst FBL, Honisch E, Hopper JL, Hulick PJ, Investigators K, Investigators H, Izatt L, Jager A, James P, Janavicius R, Jensen UB, Jensen TD, Johannsson OT, John EM, Joseph V, Kang E, Kast K, Kiiski JI, Kim SW, Kim Z, Ko KP, Konstantopoulou I, Kramer G, Krogh L, Kruse TA, Kwong A, Larsen M, Lasset C, Lautrup C, Lazaro C, Lee J, Lee JW, Lee MH, Lemke J, Lesueur F, Liljegren A, Lindblom A, Llovet P, Lopez-Fernández A, Lopez-Perolio I, Lorca V, Loud JT, Ma ESK, Mai PL, Manoukian S, Mari V, Martin L, Matricardi L, Mebirouk N, Medici V, Meijers-Heijboer HEJ, Meindl A, Mensenkamp AR, Miller C, Gomes DM, Montagna M, Mooij TM, Moserle L, Mouret-Fourme E, Mulligan AM, Nathanson KL, Navratilova M, Nevanlinna H, Niederacher D, Nielsen FCC, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Ong KR, Osorio A, Ott CE, Palli D, Park SK, Parsons MT, Pedersen IS, Peissel B, Peixoto A, Pérez-Segura P, Peterlongo P, Petersen AH, Porteous ME, Pujana MA, Radice P, Ramser J, Rantala J, Rashid MU, Rhiem K, Rizzolo P, Robson ME, Rookus MA, Rossing CM, Ruddy KJ, Santos C, Saule C, Scarpitta R, Schmutzler RK, Schuster H, Senter L, Seynaeve CM, Shah PD, Sharma P, Shin VY, Silvestri V, Simard J, Singer CF, Skytte AB, Snape K, Solano AR, Soucy P, Southey MC, Spurdle AB, Steele L, Steinemann D, Stoppa-Lyonnet D, Stradella A, Sunde L, Sutter C, Tan YY, Teixeira MR, Teo SH, Thomassen M, Tibiletti MG, Tischkowitz M, Tognazzo S, Toland AE, Tommasi S, Torres D, Toss A, Trainer AH, Tung N, van Asperen CJ, van der Baan FH, van der Kolk LE, van der Luijt RB, van Hest LP, Varesco L, Varon-Mateeva R, Viel A, Vierstrate J, Villa R, von Wachenfeldt A, Wagner P, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Wieme G, Yadav S, Yannoukakos D, Yoon SY, Zanzottera C, Zorn KK, D'Amico AV, Freedman ML, Pomerantz MM, Chenevix-Trench G, Antoniou AC, Neuhausen SL, Ottini L, Nielsen HR, Rebbeck TR
CANCER RESEARCH. 2020; 624:638
DOI: 10.1158/0008-5472.CAN-19-1840.Fachal, L, Aschard, H, Beesley, J, Barnes, DR, Allen, J, Kar, S, Pooley, KA, Dennis, J, Michailidou, K, Turman, C, Soucy, P, Lemacon, A, Lush, M, Tyrer, JP, Ghoussaini, M, Marjaneh, MM, Jiang, X, Agata, S, Aittomaki, K, Rosario Alonso, M., Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Arason, A, Arndt, V, Aronson, KJ, Arun, BK, Auber, B, Auer, PL, Azzollini, J, Balmana, J, Barkardottir, RB, Barrowdale, D, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bialkowska, K, Blanco, AM, Blomqvist, C, Blot, W, Bogdanova, NV, Bojesen, SE, Bolla, MK, Bonanni, B, Borg, A, Bosse, K, Brauch, H, Brenner, H, Briceno, I, Brock, IW, Brooks-Wilson, A, Bruening, Thomas, Burwinkel, B, Buys, SS, Cai, QY, Caldes, T, Caligo, MA, Camp, NJ, Campbell, I, Canzian, F, Carroll, JS, Carter, BD, Castelao, JE, Chiquette, J, Christiansen, H, Chung, WK, Claes, KBM, Clarke, CL, Collee, JM, Cornelissen, S, Couch, FJ, Cox, A, Cross, SS, Cybulski, C, Czene, K, Daly, MB, de la Hoya, M, Devilee, P, Diez, O, Ding, YC, Dite, GS, Domchek, SM, Doerk, Thilo, dos-Santos-Silva, I, Droit, A, Dubois, S, Dumont, M, Duran, M, Durcan, L, Dwek, M, Eccles, DM, Engel, C, Eriksson, M, Evans, DG, Fasching, PA, Fletcher, O, Floris, G, Flyger, H, Foretova, L, Foulkes, WD, Friedman, E, Fritschi, L, Frost, D, Gabrielson, M, Gago-Dominguez, M, Gambino, G, Ganz, PA, Gapstur, SM, Garber, J, Garcia-Saenz, JA, Gaudet, MM, Georgoulias, V, Giles, GG, Glendon, G, Godwin, AK, Goldberg, MS, Goldgar, DE, Gonzalez-Neira, A, Tibiletti, MG, Greene, MH, Grip, M, Gronwald, J, Grundy, A, Guenel, P, Hahnen, E, Haiman, CA, Hakansson, N, Hall, P, Hamann, U, Harrington, PA, Hartikainen, JM, Hartman, M, He, W, Healey, CS, Heemskerk-Gerritsen, BAM, Heyworth, J, Hillemanns, P, Hogervorst, FBL, Hollestelle, A, Hooning, MJ, Hopper, JL, Howell, A, Huang, GAMQ, Hulick, PJ, Imyanitov, EN, Isaacs, C, Iwasaki, M, Jager, A, Jakimovska, M, Jakubowska, A, James, PA, Janavicius, R, Jankowitz, RC, John, EM, Johnson, N, Jones, ME, Jukkola-Vuorinen, A, Jung, A, Kaaks, R, Kang, D, Kapoor, PM, Karlan, BY, Keeman, R, Kerin, MJ, Khusnutdinova, E, Kiiski, JI, Kirk, J, Kitahara, CM, Ko, YD, Konstantopoulou, I, Kosma, VM, Koutros, S, Kubelka-Sabit, K, Kwong, A, Kyriacou, K, Laitman, Y, Lambrechts, D, Lee, E, Leslie, G, Lester, J, Lesueur, F, Lindblom, A, Lo, WY, Long, J, Lophatananon, A, Loud, JT, Lubinski, J, MacInnis, RJ, Maishman, T, Makalic, E, Mannermaa, A, Manoochehri, M, Manoukian, S, Margolin, S, Martinez, ME, Matsuo, K, Maurer, T, Mavroudis, D, Mayes, R, McGuffog, L, McLean, C, Mebirouk, N, Meindl, A, Miller, A, Miller, N, Montagna, M, Moreno, F, Muir, K, Mulligan, AM, Munoz-Garzon, VM, Muranen, TA, Narod, SA, Nassir, R, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Neven, P, Nielsen, FC, Nikitina-Zake, L, Norman, A, Offit, K, Olah, E, Olopade, OI, Olsson, H, Orr, N, Osorio, A, Pankratz, VS, Papp, J, Park, SK, Park-Simon, TW, Parsons, MT, Paul, J, Pedersen, IS, Peissel, B, Peshkin, B, Peterlongo, P, Peto, J, Plaseska-Karanfilska, D, Prajzendanc, K, Prentice, R, Presneau, N, Prokofyeva, D, Angel Pujana, Miquel, Pylkas, K, Radice, P, Ramus, SJ, Rantala, J, Rau-Murthy, R, Rennert, G, Risch, HA, Robson, M, Romero, A, Rossing, M, Saloustros, E, Sanchez-Herrero, E, Sandler, DP, Santamarina, M, Saunders, C, Sawyer, EJ, Scheuner, MT, Schmidt, DF, Schmutzler, RK, Schneeweiss, A, Schoemaker, MJ, Schoettker, Ben, Schuermann, Peter, Scott, C, Scott, RJ, Senter, L, Seynaeve, CM, Shah, M, Sharma, P, Shen, CY, Shu, XO, Singer, CF, Slavin, TP, Smichkoska, S, Southey, MC, Spinelli, JJ, Spurdle, AB, Stone, J, Stoppa-Lyonnet, D, Sutter, C, Swerdlow, AJ, Tamimi, RM, Tan, YY, Tapper, WJ, Taylor, JA, Teixeira, MR, Tengstroem, Maria, Teo, SH, Terry, MB, Teul, A, Thomassen, M, Thull, DL, Tischkowitz, M, Toland, AE, Tollenaar, RAEM, Tomlinson, I, Torres, D, Torres-Mejia, G, Troester, MA, Truong, T, Tung, N, Tzardi, M, Ulmer, HU, Vachon, CM, van Asperen, CJ, van der Kolk, LE, van Rensburg, EJ, Vega, A, Viel, A, Vijai, J, Vogel, MJ, Wang, Q, Wappenschmidt, B, Weinberg, CR, Weitzel, JN, Wendt, C, Wildiers, H, Winqvist, R, Wolk, A, Wu, AH, Yannoukakos, D, Zhang, Y, Zheng, W, Hunter, D, Pharoah, PDP, Chang-Claude, J, Garcia-Closas, M, Schmidt, MK, Milne, RL, Kristensen, VN, French, JD, Edwards, SL, Antoniou, AC, Chenevix-Trench, G, Simard, J, Easton, DF, Kraft, P, Dunning, AM, Mari, V, Berthet, P, Castera, L, Vaur, D, Lallaoui, H, Bignon, YJ, Uhrhammer, N, Bonadona, V, Lasset, C, Revillion, F, Vennin, P, Muller, D, Gomes, DM, Ingster, O, Coupier, I, Pujol, P, Collonge-Rame, MA, Mortemousque, I, Bera, O, Rose, M, Baurand, A, Bertolone, G, Faivre, L, Dreyfus, H, Leroux, D, Venat-Bouvet, L, Bezieau, S, Delnatte, C, Chiesa, J, Gilbert-Dussardier, B, Gesta, P, Prieur, FP, Bronner, M, Sokolowska, J, Coulet, F, Boutry-Kryza, N, Calender, A, Giraud, S, Leone, M, Fert-Ferrer, S, Jiao, Y, Lesueur, FL, Barouk-Simonet, E, Bubien, V, Longy, M, Sevenet, N, Gladieff, L, Toulas, C, Reimineras, A, Sobol, H, Bressac-de Paillerets, B, Cabaret, O, Caron, O, Guillaud-Bataille, M, Rouleau, E, Belotti, M, Buecher, B, Caputo, S, Colas, C, De Pauw, A, Fourme, E, Gauthier-Villars, M, Golmard, L, Moncoutier, V, Saule, C, Donaldson, A, Murray, A, Brady, A, Brewer, C, Pottinger, C, Miller, C, Gallagher, D, Gregory, H, Cook, J, Eason, J, Adlard, J, Barwell, J, Ong, KR, Snape, K, Walker, L, Izatt, L, Side, L, Rogers, MT, Porteous, ME, Ahmed, M, Morrison, PJ, Brennan, P, Eeles, R, Davidson, R, Sexton, A, Christian, A, Trainer, A, Spigelman, A, Fellows, A, Shelling, A, De Fazio, A, Blackburn, A, Crook, A, Meiser, B, Patterson, B, Clarke, C, Hunt, C, Scott, C, Amor, D, Marsh, D, Edkins, E, Salisbury, E, Haan, E, Neidermayr, E, Macrea, F, Farshid, G, Lindeman, G, Trench, G, Mann, G, Giles, G, Gill, G, Thorne, H, Hickie, I, Winship, I, Flanagan, J, Kollias, J, Visvader, J, Taylor, J, Burke, J, Saunus, J, Forbes, J, Hopper, J, French, J, Tucker, K, Wu, K, Phillips, K, Lipton, L, Andrews, L, Lobb, L, Walker, L, Kentwell, M, Spurdle, M, Cummings, M, Gleeson, M, Harris, M, Jenkins, M, Young, MA, Delatycki, M, Wallis, M, Burgess, M, Price, M, Brown, M, Southey, M, Bogwitz, M, Field, M, Friedlander, M, Gattas, M, Saleh, M, Hayward, N, Pachter, N, Cohen, P, Duijf, P, James, P, Simpson, P, Fong, P, Butow, P, Williams, R, Kefford, R, Scott, R, Milne, R, Balleine, R, Dawson, S, Lok, S, O'Connell, S, Greening, S, Nightingale, S, Edwards, S, Fox, S, Mclachlan, SA, Lakhani, S, Antill, Y, Aalfs, C, Meijers-Heijboer, H, van Engelen, K, Gille, H, Boere, I, Collee, M, van Deurzen, C, Hooning, M, Obdeijn, IM, van den Ouweland, A, Seynaeve, C, Siesling, S, Verloop, J, van Asperen, C, van Cronenburg, T, Blok, R, de Boer, M, Garcia, EG, Adank, M, Hogervorst, F, Jenner, D, van Leeuwen, F, Rookus, M, Russell, N, Schmidt, M, van den Belt-Dusebout, S, Kets, C, Mensenkamp, A, de Bock, T, van Der Hout, A, Mourits, M, Oosterwijk, J, Ausems, M, Koudijs, M, Marsh, D, Baxter, R, Yip, D, Carpenter, J, Davis, A, Pathmanathan, N, Simpson, P, Graham, D, Sachchithananthan, M, GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, ABCTB Investigators
NATURE GENETICS. 2020; 56:73
DOI: 10.1038/s41588-019-0537-1.Walker, Logan C., Lattimore, Vanessa Lilian, Kvist, Anders, Kleiblova, Petra, Zemankova, Petra, de Jong, Lucy, Wiggins, George A. R., Hakkaart, Christopher, Cree, Simone L., Behar, Raquel, Houdayer, Claude, Parsons, Michael T., Kennedy, Martin A., Spurdle, Amanda B., de la Hoya, Miguel, kConFab Investigators
Frontiers in genetics. 2019;
DOI: 10.3389/fgene.2019.01139.Figlioli, Gisella, Bogliolo, Massimo, Catucci, Irene, Caleca, Laura, Viz Lasheras, Sandra, Pujol, Roser, Kiiski, I, Johanna, Muranen, Taru A., Barnes, Daniel R., Dennis, Joe, Michailidou, Kyriaki, Bolla, Manjeet K., Leslie, Goska, Aalfs, Cora M., Adank, Muriel A., Adlard, Julian, Agata, Simona, Cadoo, Karen, Agnarsson, Bjarni A., Ahearn, Thomas, Aittomaki, Kristiina, Ambrosone, Christine B., Andrews, Lesley, Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Arun, Banu K., Asseryanis, Ella, Auber, Bernd, Auvinen, Paivi, Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Barwell, Julian, Freeman, Laura E. Beane, Beauparlant, Charles Joly, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Berger, Raanan, Bermisheva, Marina, Blanco, Amie M., Blomqvist, Carl, Bogdanova, V, Natalia, Bojesen, Anders, Bojesen, Stig E., Bonanni, Bernardo, Borg, Ake, Brady, Angela F., Brauch, Hiltrud, Brenner, Hermann, Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A., Campa, Daniele, Campbell, Ian G., Canzian, Federico, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Claes, Kathleen B. M., Clarke, Christine L., Collavoli, Anita, Conner, Thomas A., Cox, David G., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S., Ditsch, Nina, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Durda, Katarzyna, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Foulkes, William D., Friebel, Tara M., Friedman, Eitan, Gabrielson, Marike, Gaddam, Pragna, Gago-Dominguez, Manuela, Gao, Chi, Gapstur, Susan M., Garber, Judy, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Gaudet, Mia M., Gayther, Simon A., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Guenel, Pascal, Gutierrez-Barrera, Angelica M., Haeberle, Lothar, Haiman, Christopher A., Hakansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hein, Alexander, Heyworth, Jane, Hillemanns, Peter, Hollestelle, Antoinette, Hopper, John L., Hosgood, III, H. Dean, Howell, Anthony, Hu, Chunling, Hulick, Peter J., Hunter, David J., Imyanitov, Evgeny N., Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Karlan, Beth Y., Khusnutdinova, Elza, Kitahara, Cari M., Konstantopoulou, Irene, Koutros, Stella, Kraft, Peter, Lambrechts, Diether, Lazaro, Conxi, Le Marchand, Loic, Lester, Jenny, Lesueur, Fabienne, Lilyquist, Jenna, Loud, Jennifer T., Lu, Karen H., Luben, Robert N., Lubinski, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Maurer, Tabea, Mavroudis, Dimitrios, Mebirouk, Noura, Meindl, Alfons, Menon, Usha, Miller, Austin, Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Newman, William G., Nguyen-Dumont, Tu, Nielsen, Finn Cilius, Nielsen, Sarah, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, I, Olufunmilayo, Olshan, Andrew F., Olson, Janet E., Olsson, Hakan, Osorio, Ana, Ottini, Laura, Peissel, Bernard, Peixoto, Ana, Peto, Julian, Plaseska-Karanfilska, Dijana, Pocza, Timea, Presneau, Nadege, Angel Pujana, Miquel, Punie, Kevin, Rack, Brigitte, Rantala, Johanna, Rashid, Muhammad U., Rau-Murthy, Rohini, Rennert, Gad, Lejbkowicz, Flavio, Rhenius, Valerie, Romero, Atocha, Rookus, Matti A., Ross, Eric A., Rossing, Maria, Rudaitis, Vilius, Ruebner, Matthias, Saloustros, Emmanouil, Sanden, Kristin, Santamarina, Marta, Scheuner, Maren T., Schmutzler, Rita K., Schneider, Michael, Scott, Christopher, Senter, Leigha, Shah, Mitul, Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F., Sohn, Christof, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Steele, Linda, Stoppa-Lyonnet, Dominique, Tapper, William J., Teixeira, Manuel R., Terry, Mary Beth, Thomassen, Mads, Thompson, Jennifer, Thull, Darcy L., Tischkowitz, Marc, Tollenaar, Rob A. E. M., Torres, Diana, Troester, Melissa A., Truong, Therese, Tung, Nadine, Untch, Michael, Vachon, Celine M., van Rensburg, Elizabeth J., van Veen, Elke M., Vega, Ana, Viel, Alessandra, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wendt, Camilla, Wieme, Greet, Wolk, Alicja, Yang, Xiaohong R., Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Dunning, Alison M., Lush, Michael, Wang, Qin, McGuffog, Lesley, Parsons, Michael T., Pharoah, Paul D. P., Fostira, Florentia, Toland, Amanda E., Andrulis, Irene L., Ramus, Susan J., Swerdlow, Anthony J., Greene, Mark H., Chung, Wendy K., Milne, Roger L., Chenevix-Trench, Georgia, Doerk, Thilo, Schmidt, Marjanka K., Easton, Douglas F., Radice, Paolo, Hahnen, Eric, Antoniou, Antonis C., Couch, Fergus J., Nevanlinna, Heli, Surralles, Jordi, Peterlongo, Paolo, Balleine, Rosemary, Baxter, Robert, Braye, Stephen, Carpenter, Jane, Dahlstrom, Jane, Forbes, John, Lee, C. Soon, Marsh, Deborah, Morey, Adrienne, Pathmanathan, Nirmala, Scott, Rodney, Simpson, Peter, Spigelman, Allan, Wilcken, Nicholas, Yip, Desmond, Zeps, Nikolajs, Belotti, Muriel, Bertrand, Ophelie, Birot, Anne-Marie, Buecher, Bruno, Caputo, Sandrine, Dupre, Anais, Fourme, Emmanuelle, Gauthier-Villars, Marion, Golmard, Lisa, Le Mentec, Marine, Moncoutier, Virginie, de Pauw, Antoine, Saule, Claire, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Leone, Mlanie, Bressac-de-Paillerets, Brigitte, Caron, Olivier, Guillaud-Bataille, Marine, Bignon, Yves-Jean, Uhrhammer, Nancy, Bonadona, Valerie, Lasset, Christine, Berthet, Pascaline, Castera, Laurent, Vaur, Dominique, Bourdon, Violaine, Nogues, Catherine, Noguchi, Tetsuro, Popovici, Cornel, Remenieras, Audrey, Sobol, Hagay, Coupier, Isabelle, Pujol, Pascal, Adenis, Claude, Dumont, Aurelie, Revillion, Francoise, Muller, Daniele, Barouk-Simonet, Emmanuelle, Bonnet, Francoise, Bubien, Virginie, Longy, Michel, Sevenet, Nicolas, Gladieff, Laurence, Guimbaud, Rosine, Feillel, Viviane, Toulas, Christine, Dreyfus, Helene, Leroux, Christine Dominique, Peysselon, Magalie, Rebischung, Christine, Legrand, Clementine, Baurand, Amandine, Bertolone, Geoffrey, Coron, Fanny, Faivre, Laurence, Jacquot, Caroline, Lizard, Sarab, Kientz, Caroline, Lebrun, Marine, Prieur, Fabienne, Fert-Ferrer, Sandra, Mari, Vronique, Venat-Bouvet, Laurence, Bezieau, Stephane, Delnatte, Capucine, Mortemousque, Isabelle, Colas, Chrystelle, Coulet, Florence, Soubrier, Florent, Warcoin, Mathilde, Bronner, Myriam, Sokolowska, Johanna, Collonge-Rame, Marie-Agnes, Damette, Alexandre, Gesta, Paul, Lallaoui, Hakima, Chiesa, Jean, Molina-Gomes, Denise, Ingster, Olivier, Manouvrier-Hanu, Sylvie, Lejeune, Sophie, Aghmesheh, Morteza, Greening, Sian, Amor, David, Gattas, Mike, Botes, Leon, Buckley, Michael, Friedlander, Michael, Koehler, Jessica, Meiser, Bettina, Saleh, Mona, Salisbury, Elizabeth, Trainer, Alison, Tucker, Kathy, Antill, Yoland, Dobrovic, Alexander, Fellows, Andrew, Fox, Stephen, Harris, Marion, Nightingale, Sophie, Phillips, Kelly, Sambrook, Joe, Thorne, Heather, Armitage, Shane, Arnold, Leanne, Kefford, Rick, Kirk, Judy, Rickard, Edwina, Bastick, Patti, Beesley, Jonathan, Hayward, Nick, Spurdle, Amanda, Walker, Logan, Beilby, John, Saunders, Christobel, Bennett, Ian, Blackburn, Anneke, Bogwitz, Michael, Gaff, Clara, Lindeman, Geoff, Pachter, Nick, Scott, Clare, Sexton, Adrienne, Visvader, Jane, Taylor, Jessica, Winship, Ingrid, Brennan, Meagan, Brown, Melissa, French, Juliet, Edwards, Stacey, Burgess, Matthew, Burke, Jo, Patterson, Briony, Butow, Phyllis, Culling, Bronwyn, Caldon, Liz, Callen, David, Chauhan, Deepa, Eisenbruch, Maurice, Heiniger, Louise, Chauhan, Manisha, Christian, Alice, Dixon, Joanne, Kidd, Alexa, Cohen, Paul, Colley, Alison, Fenton, Georgina, Crook, Ashley, Dickson, Rebecca, Field, Michael, Cui, James, Cummings, Margaret, Dawson, Sarah-Jane, DeFazio, Anna, Delatycki, Martin, Dudding, Tracy, Edkins, Ted, Farshid, Gelareh, Flanagan, James, Fong, Peter, Forrest, Laura, Gallego-Ortega, David, George, Peter, Gill, Grantley, Kollias, James, Haan, Eric, Hart, Stewart, Jenkins, Mark, Hunt, Clare, Lakhani, Sunil, Lipton, Lara, Lobb, Liz, Mann, Graham, McLachlan, Sue Anne, O'Connell, Shona, O'Sullivan, Sarah, Pieper, Ellen, Robinson, Bridget, Saunus, Jodi, Scott, Elizabeth, Shelling, Andrew, Williams, Rachael, Young, Mary Ann, ABCTB Investigators, GEMO Study Collaborators, KConFab
npj Breast Cancer. 2019;
DOI: 10.1038/s41523-019-0127-5.Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Faust U, Felbor U, Feroce I, Fine M, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A, Lalloo F, Larsen M, Lattimore VL, Lautrup C, Ledig S, Leinert E, Lewis AL, Lim J, Loeffler M, López-Fernández A, Lucci-Cordisco E, Maass N, Manoukian S, Marabelli M, Matricardi L, Meindl A, Michelli RD, Moghadasi S, Moles-Fernández A, Montagna M, Montalban G, Monteiro AN, Montes E, Mori L, Moserle L, Müller CR, Mundhenke C, Naldi N, Nathanson KL, Navarro M, Nevanlinna H, Nichols CB, Niederacher D, Nielsen HR, Ong KR, Pachter N, Palmero EI, Papi L, Pedersen IS, Peissel B, Pérez-Segura P, Pfeifer K, Pineda M, Pohl-Rescigno E, Poplawski NK, Porfirio B, Quante AS, Ramser J, Reis RM, Revillion F, Rhiem K, Riboli B, Ritter J, Rivera D, Rofes P, Rump A, Salinas M, Sánchez de Abajo AM, Schmidt G, Schoenwiese U, Seggewiß J, Solanes A, Steinemann D, Stiller M, Stoppa-Lyonnet D, Sullivan KJ, Susman R, Sutter C, Tavtigian SV, Teo SH, Teulé A, Thomassen M, Tibiletti MG, Tognazzo S, Toland AE, Tornero E, Törngren T, Torres-Esquius S, Toss A, Trainer AH, van Asperen CJ, van Mackelenbergh MT, Varesco L, Vargas-Parra G, Varon R, Vega A, Velasco Á, Vesper AS, Viel A, Vreeswijk MPG, Wagner SA, Waha A, Walker LC, Walters RJ, Wang-Gohrke S, Weber BHF, Weichert W, Wieland K, Wiesmüller L, Witzel I, Wöckel A, Woodward ER, Zachariae S, Zampiga V, Zeder-Göß C, KConFab Investigators, Lázaro C, De Nicolo A, Radice P, Engel C, Schmutzler RK, Goldgar DE, Spurdle AB
HUMAN MUTATION. 2019; 1557:1578
DOI: 10.1002/humu.23818.Lorca, Victor, Rueda, Daniel, Martin-Morales, Lorena, Jesus Fernandez-Acenero, Maria, Grolleman, Judith, Poves, Carmen, Llovet, Patricia, Tapial, Sandra, Garcia-Barberan, Vanesa, Sanz, Julian, Perez-Segura, Pedro, de Voer, Richarda M., Diaz-Rubio, Eduardo, de la Hoya, Miguel, Caldes, Trinidad, Garre, Pilar
SCIENTIFIC REPORTS. 2019;
DOI: 10.1038/s41598-019-46403-5.Lopez-Perolio, Irene, Leman, Raphael, Behar, Raquel, Lattimore, Vanessa, Pearson, John F., Castera, Laurent, Martins, Alexandra, Vaur, Dominique, Goardon, Nicolas, Davy, Gregoire, Garre, Pilar, Garcia-Barberan, Vanesa, Llovet, Patricia, Perez-Segura, Pedro, Diaz-Rubio, Eduardo, Caldes, Trinidad, Hruska, Kathleen S., Hsuan, Vickie, Wu, Sitao, Pesaran, Tina, Karam, Rachid, Vallon-Christersson, Johan, Borg, Ake, Valenzuela-Palomo, Alberto, Velasco, Eladio A., Southey, Melissa, Vreeswijk, Maaike P. G., Devilee, Peter, Kvist, Anders, Spurdle, Amanda B., Walker, Logan C., Krieger, Sophie, de la Hoya, Miguel, kConFab Investigators
JOURNAL OF MEDICAL GENETICS. 2019; 453:460
DOI: 10.1136/jmedgenet-2018-105834.Ferreira, Manuel A., Gamazon, Eric R., Al-Ejeh, Fares, Aittomaki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arason, Adalgeir, Arndt, Volker, Aronson, Kristan J., Arun, Banu K., Asseryanis, Ella, Azzollini, Jacopo, Balmana, Judith, Barnes, Daniel R., Barrowdale, Daniel, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blomqvist, Carl, Bogdanova, V, Natalia, Bojesen, Stig E., Bolla, Manjeet K., Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Broeks, Annegien, Burwinkel, Barbara, Caldes, Trinidad, Caligo, Maria A., Campa, Daniele, Campbell, Ian, Canzian, Federico, Carter, Jonathan, Carter, Brian D., Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Christiansen, Hans, Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Dennis, Joe, Devilee, Peter, Diez, Orland, Doerk, Thilo, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Ejlertsen, Bent, Ellberg, Carolina, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A., Fletcher, Olivia, Flyger, Henrik, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gago-Dominguez, Manuela, Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Gaudet, Mia M., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Haiman, Christopher A., Hall, Per, Hamann, Ute, He, Wei, Heyworth, Jane, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hoover, Robert N., Hopper, John L., Hulick, Peter J., Humphreys, Keith, Imyanitov, Evgeny N., Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jankowitz, Rachel C., John, Esther M., Johnson, Nichola, Joseph, Vijai, Karlan, Beth Y., Khusnutdinova, Elza, Kiiski, I, Johanna, Ko, Yon-Dschun, Jones, Michael E., Konstantopoulou, Irene, Kristensen, Vessela N., Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Lindstrom, Sara, Long, Jirong, Loud, Jennifer T., Lubinski, Jan, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Maurer, Tabea, Mavroudis, Dimitrios, McGuffog, Lesley, Meindl, Alfons, Menon, Usha, Michailidou, Kyriaki, Miller, Austin, Montagna, Marco, Moreno, Fernando, Moserle, Lidia, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nevelsteen, Ines, Nielsen, Finn C., Nikitina-Zake, Liene, Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, I, Olufunmilayo, Olsson, Hakan, Osorio, Ana, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T., Pedersen, Inge Sokilde, Peixoto, Ana, Peterlongo, Paolo, Pharoah, Paul D. P., Plaseska-Karanfilska, Dijana, Poppe, Bruce, Presneau, Nadege, Radice, Paolo, Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Saloustros, Emmanouil, Sanden, Kristin, Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F., Soucy, Penny, Southey, Melissa C., Spinelli, John J., Spurdle, Amanda B., Stone, Jennifer, Swerdlow, Anthony J., Tapper, William J., Taylor, Jack A., Teixeira, Manuel R., Terry, Mary Beth, Teule, Alex, Thomassen, Mads, Thoene, Kathrin, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Truong, Therese, Tung, Nadine, Vachon, Celine M., van Asperen, Christi J., van den Ouweland, Ans M. W., van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra, Wang, Qin, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wendt, Camilla, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Ziogas, Argyrios, Kraft, Peter, Antoniou, Antonis C., Zheng, Wei, Easton, Douglas F., Milne, Roger L., Beesley, Jonathan, Chenevix-Trench, Georgia, Arnold, Norbert, Auber, Bernd, Bogdanova-Markov, Nadja, Borde, Julika, Caliebe, Almuth, Ditsch, Nina, Dworniczak, Bernd, Engert, Stefanie, Faust, Ulrike, Gehrig, Andrea, Hahnen, Eric, Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Just, Walter, Kast, Karin, Larsen, Mirjam, Lemke, Johannes, Huu Phuc Nguyen, Niederacher, Dieter, Ott, Claus-Eric, Platzer, Konrad, Pohl-Rescigno, Esther, Ramser, Juliane, Rhiem, Kerstin, Steinemann, Doris, Sutter, Christian, Varon-Mateeva, Raymonda, Wang-Gohrke, Shan, Weber, Bernhard H. F., Prieur, Fabienne, Pujol, Pascal, Sagne, Charlotte, Sevenet, Nicolas, Sobol, Hagay, Sokolowska, Johanna, Stoppa-Lyonnet, Dominique, Venat-Bouvet, Laurence, Adlard, Julian, Ahmed, Munaza, Barwell, Julian, Brady, Angela, Brewer, Carole, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Eason, Jacqueline, Eeles, Ros, Evans, D. Gareth, Gregory, Helen, Hanson, Helen, Henderson, Alex, Hodgson, Shirley, Izatt, Louise, Kennedy, M. John, Lalloo, Fiona, Miller, Clare, Morrison, Patrick J., Ong, Kai-ren, Perkins, Jo, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Snape, Katie, Walker, Lisa, Harrington, Patricia A., Heemskerk-Gerritsen, Bernadette A. M., Rookus, Matti A., Seynaeve, Caroline M., van der Baan, Frederieke H., van der Hout, Annemieke H., van der Kolk, Lizet E., van der Luijt, Rob B., van Deurzen, Carolien H. M., van Doorn, Helena C., van Engelen, Klaartje, van Hest, Liselotte, van Os, Theo A. M., Verhoef, Senno, Vogel, Maartje J., Wijnen, Juul T., Miron, Alexander, Kapuscinski, Miroslav, Bane, Anita, Ross, Eric, Buys, Saundra S., Conner, Thomas A., Balleine, Rosemary, Baxter, Robert, Braye, Stephen, Carpenter, Jane, Dahlstrom, Jane, Forbes, John, Lee, Soon C., Marsh, Deborah, Morey, Adrienne, Pathmanathan, Nirmala, Simpson, Peter, Spigelman, Allan, Wilcken, Nicholas, Yip, Desmond, GC-HBOC Study Collaborators, GEMO Study Collaborators, EMBRACE Collaborators, HEBON Investigators, BCFR Investigators, ABCTB Investigators
NATURE COMMUNICATIONS. 2019;
DOI: 10.1038/s41467-018-08053-5.Nielsen, Sarah M., Eccles, Diana M., Romero, Iris L., Al-Mulla, Fand, Balmana, Judith, Biancolella, Michela, Blok, Rien, Caligo, Maria Adelaide, Calvello, Mariarosaria, Capone, Gabriele Lorenzo, Cavalli, Pietro, Chan, T. L. Chris, Claes, Kathleen B. M., Cortesi, Laura, Couch, Fergus J., de la Hoya, Miguel, de Toffol, Simona, Diez, Orland, Domchek, Susan M., Eeles, Ros, Efremidis, Anna, Fostira, Florentia, Goldgar, David, Hadjisavvas, Andreas, Hansen, Thomas v O., Hirasawa, Akira, Houdayer, Claude, Kleiblova, Petra, Krieger, Sophie, Lazaro, Conxi, Loizidou, Maria, Manoukian, Siranoush, Mensenkamp, Arjen R., Moghadasi, Setareh, Monteiro, Alvaro N., Mori, Luigi, Morrow, April, Naldi, Nadia, Nielsen, Henriette R., Olopade, I, Olufunmilayo, Pachter, Nicholas S., Palrnero, I, Edenir, Pedersen, Inge S., Piane, Maria, Puzzo, Marianna, Robson, Mark, Rossing, Maria, Sini, Maria Christina, Solano, Angela, Soukupova, Jana, Tedaldi, Gianluca, Teixeira, Manuel, Thomassen, Mads, Tibiletti, Maria Grazia, Toland, Amanda, Torngren, Therese, Vaccari, Erica, Varesco, Liliana, Vega, Ana, Wallis, Yvonne, Wappenschmidt, Barbara, Weitzel, Jeffrey, Spurdle, Amanda B., De Nicolo, Arcangela, Gomez-Garcia, Encarna B.
Jco Precision Oncology. 2018;
DOI: 10.1200/PO.18.00091.Martin-Morales L, Rofes P, Diaz-Rubio E, Llovet P, Lorca V, Bando I, Perez-Segura P, de la Hoya M, Garre P, Garcia-Barberan V, Caldes T
Plos One. 2018;
DOI: 10.1371/journal.pone.0203885.Moles-Fernández A, Duran-Lozano L, Montalban G, Bonache S, López-Perolio I, Menéndez M, Santamariña M, Behar R, Blanco A, Carrasco E, López-Fernández A, Stjepanovic N, Balmaña J, Capellá G, Pineda M, Vega A, Lázaro C, de la Hoya M, Diez O, Gutiérrez-Enríquez S
Frontiers in genetics. 2018; 366:366
DOI: 10.3389/fgene.2018.00366.Montalban G, Fraile-Bethencourt E, López-Perolio I, Pérez-Segura P, Infante M, Durán M, Alonso-Cerezo MC, López-Fernández A, Diez O, de la Hoya M, Velasco EA, Gutiérrez-Enríquez S
HUMAN MUTATION. 2018; 1155:1160
DOI: 10.1002/humu.23583.Rebbeck, Timothy R., Friebel, Tara M., Friedman, Eitan, Hamann, Ute, Huo, Dezheng, Kwong, Ava, Olah, Edith, Olopade, Olufunmilayo I., Solano, Angela R., Teo, Soo-Hwang, Thomassen, Mads, Weitzel, Jeffrey N., Chan, T. L., Couch, Fergus J., Goldgar, David E., Kruse, Torben A., Palmero, Edenir Inez, Park, Sue Kyung, Torres, Diana, van Rensburg, Elizabeth J., McGuffog, Lesley, Parsons, Michael T., Leslie, Goska, Aalfs, Cora M., Abugattas, Julio, Adlard, Julian, Agata, Simona, Aittomaki, Kristiina, Andrews, Lesley, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Asseryanis, Ella, Auerbach, Leo, Azzollini, Jacopo, Balmana, Judith, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Benitez, Javier, Berger, Andreas, Berger, Raanan, Blanco, Amie M., Blazer, Kathleen R., Blok, Marinus J., Bonadona, Valerie, Bonanni, Bernardo, Bradbury, Angela R., Brewer, Carole, Buecher, Bruno, Buys, Saundra S., Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A., Campbell, Ian, Caputo, Sandrine M., Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Collee, J. Margriet, Cook, Jackie, Davidson, Rosemarie, de la Hoya, Miguel, De Leeneer, Kim, de Pauw, Antoine, Delnatte, Capucine, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, SusanM., Dorfling, Cecilia M., Velazquez, Carolina, Dworniczak, Bernd, Eason, Jacqueline, Easton, Douglas F., Eeles, Ros, Ehrencrona, Hans, Ejlertsen, Bent, Engel, Christoph, Engert, Stefanie, Evans, D. Gareth, Faivre, Laurence, Feliubadalo, Lidia, Ferrer, Sandra Fert, Foretova, Lenka, Fowler, Jeffrey, Frost, Debra, Galvao, Henrique C. R., Ganz, Patricia A., Garber, Judy, Gauthier-Villars, Marion, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K., Greene, Mark H., Gronwald, Jacek, Gutierrez-Barrera, Angelica, Hahnen, Eric, Hauke, Jan, Henderson, Alex, Hentschel, Julia, Hogervorst, Frans B. L., Honisch, Ellen, Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Vijai, Joseph, Kaczmarek, Katarzyna, Karlan, Beth Y., Kast, Karin, Kim, Sung-Won, Konstantopoulou, Irene, Korach, Jacob, Laitman, Yael, Lasa, Adriana, Lasset, Christine, Lazaro, Conxi, Lee, Annette, Lee, Min Hyuk, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Lindor, Noralane M., Longy, Michel, Loud, Jennifer T., Lu, Karen H., Lubinski, Jan, Machackova, Eva, Manoukian, Siranoush, Mari, Veronique, Martinez-Bouzas, Cristina, Matrai, Zoltan, Mebirouk, Noura, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Mensenkamp, Arjen R., Mickys, Ugnius, Miller, Austin, Montagna, Marco, Moysich, Kirsten B., Mulligan, Anna Marie, Musinsky, Jacob, Neuhausen, Susan L., Nevanlinna, Heli, Ngeow, Joanne, Nguyen, Huu Phuc, Niederacher, Dieter, Nielsen, Henriette Roed, Nielsen, Finn Cilius, Nussbaum, Robert L., Offit, Kenneth, Ofverholm, Anna, Ong, Kai-ren, Osorio, Ana, Papi, Laura, Papp, Janos, Pasini, Barbara, Pedersen, Inge Sokilde, Peixoto, Ana, Peruga, Nina, Peterlongo, Paolo, Pohl, Esther, Pradhan, Nisha, Prajzendanc, Karolina, Prieur, Fabienne, Pujol, Pascal, Radice, Paolo, Ramus, Susan J., Rantala, Johanna, Rashid, Muhammad Usman, Rhiem, Kerstin, Robson, Mark, Rodriguez, Gustavo C., Rogers, Mark T., Rudaitis, Vilius, Schmidt, Ane Y., Schmutzler, Rita Katharina, Senter, Leigha, Shah, Payal D., Sharma, Priyanka, Side, Lucy E., Simard, Jacques, Singer, Christian F., Skytte, Anne-Bine, Slavin, Thomas P., Snape, Katie, Sobol, Hagay, Southey, Melissa, Steele, Linda, Steinemann, Doris, Sukiennicki, Grzegorz, Sutter, Christian, Szabo, Csilla I., Tan, Yen Y., Teixeira, Manuel R., Terry, Mary Beth, Teule, Alex, Thomas, Abigail, Thull, Darcy L., Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Topka, Sabine, Trainer, Alison H., Tung, Nadine, van Asperen, Christi J., van der Hout, Annemieke H., van der Kolk, Lizet E., van der Luijt, Rob B., Van Heetvelde, Mattias, Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Villarreal-Garza, Cynthia, von Wachenfeldt, Anna, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weber, Bernhard H. F., Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zidan, Jamal, Zorn, Kristin K., Selkirk, Christina G. Hutten, Hulick, Peter J., Chenevix-Trench, Georgia, Spurdle, Amanda B., Antoniou, Antonis C., Nathanson, Katherine L., EMBRACE, GEMO Study Collaborators, HEBON, KConFab Investigators
HUMAN MUTATION. 2018; 593:620
DOI: 10.1002/humu.23406.Colombo, Mara, Lopez-Perolio, Irene, Meeks, Huong D., Caleca, Laura, Parsons, Michael T., Li, Hongyan, De Vecchi, Giovanna, Tudini, Emma, Foglia, Claudia, Mondini, Patrizia, Manoukian, Siranoush, Behar, Raquel, Garcia, Encarna B. Gomez, Meindl, Alfons, Montagna, Marco, Niederacher, Dieter, Schmidt, Ane Y., Varesco, Liliana, Wappenschmidt, Barbara, Bolla, Manjeet K., Dennis, Joe, Michailidou, Kyriaki, Wang, Qin, Aittomaki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Beckmann, Matthias W., Beeghly-Fadel, Alicia, Benitez, Javier, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Stig E., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Chang-Claude, Jenny, Conroy, Don M., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Devilee, Peter, Dork, Thilo, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Gabrielson, Marike, Garcia-Closas, Montserrat, Giles, Graham G., Gonzalez-Neira, Anna, Guenel, Pascal, Haiman, Christopher A., Hall, Per, Hamann, Ute, Hartman, Mikael, Hauke, Jan, Hollestelle, Antoinette, Hopper, John L., Jakubowska, Anna, Jung, Audrey, Kosma, Veli-Matti, Lambrechts, Diether, Le Marchand, Loid, Lindblom, Annika, Lubinski, Jan, Mannermaa, Arto, Margolin, Sara, Miao, Hui, Milne, Roger L., Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Peterlongo, Paolo, Peto, Julian, Pylkas, Katri, Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., See, Mee Hoong, Southey, Melissa C., Swerdlow, Anthony, Teo, Soo H., Toland, Amanda E., Tomlinson, Ian, Truong, Therese, van Asperen, Christi J., van den Ouweland, Ans M. W., van der Kolk, Lizet E., Winqvist, Robert, Yannoukakos, Drakoulis, Zheng, Wei, Dunning, Alison M., Easton, Douglas F., Henderson, Alex, Hogervorst, Frans B. L., Izatt, Louise, Offitt, Kenneth, Side, Lucy E., van Rensburg, Elizabeth J., McGuffog, Lesley, Antoniou, Antonis C., Chenevix-Trench, Georgia, Spurdle, Amanda B., Goldgar, David E., de la Hoya, Miguel, Radice, Paolo, kConFab AOCS Investigators, Study EMBRACE, Study HEBON
HUMAN MUTATION. 2018; 729:741
DOI: 10.1002/humu.23411.Baert, Annelot, Machackova, Eva, Coene, Ilse, Cremin, Carol, Turner, Kristin, Portigal-Todd, Cheryl, Asrat, Marie Jill, Nuk, Jennifer, Mindlin, Allison, Young, Sean, MacMillan, Andree, Van Maerken, Tom, Trbusek, Martin, McKinnon, Wendy, Wood, Marie E., Foulkes, William D., Santamarina, Marta, de la Hoya, Miguel, Foretova, Lenka, Poppe, Bruce, Vral, Anne, Rosseel, Toon, De Leeneer, Kim, Vega, Ana, Claes, Kathleen B. M.
HUMAN MUTATION. 2018; 515:526
DOI: 10.1002/humu.23390.Desde su creación en el año 1992, el Grupo de Cáncer y Obesidad ha desarrollado numerosos Proyectos de Investigación en los que han colaborado investigadores del Departamento de Bioquímica y Biología Molecular de la Facultad de Farmacia de la Universidad Complutense, e investigadores pertenecientes a los Servicios de Cirugía II, Anatomía Patológica y Oncología del Hospital Clínico San Carlos de Madrid. Los principales objetivos de los trabajos llevados a cabo se han dirigido, fundamentalmente, al establecimiento del diagnóstico y del pronóstico molecular de pacientes afectados de diferentes procesos carcinogénicos. En último término, estos estudios serán de utilidad en la instauración de protocolos terapéuticos personalizados, en función de las alteraciones moleculares detectadas.
En la actualidad, los tipos tumorales que se investigan son el cáncer no microcítico de pulmón y los cánceres gastrointestinales, especialmente el cáncer colorrectal y el cáncer gástrico.
Entre los logros de los últimos años, cabe destacar los resultados relativos a la investigación de la función telomérica en cáncer no microcítico de pulmón y en cáncer colorrectal, habiéndose encontrado interesantes asociaciones con el pronóstico de los pacientes afectados por estas patologías. De acuerdo con los datos de los trabajos del Grupo, consideramos que el diferente valor que como factor pronóstico tiene el estatus telomérico en distintos tipos de cánceres humanos, podría explicarse a través del análisis de moléculas relacionadas con las vías de senescencia celulares. Así, se podría establecer una firma genética integrada por un reducido número de moléculas, que sería de utilidad en el establecimiento del pronóstico de pacientes afectados por las patologías objeto de estudio y que han sido sometidos a cirugía de intención curativa.
Los objetivos que se relacionan a continuación se pretenden alcanzar investigando tres tipos tumorales de alta incidencia en nuestra sociedad, como son: el cáncer no microcítico de pulmón (CNMP), el cáncer colorrectal (CCR) y el cáncer gástrico (CG).
El Grupo de investigación está integrado dentro del Instituto de Salud de la Mujer del Hospital Clínico San Carlos. Está compuesto por investigadores sénior que dan solidez al grupo y nuevos investigadores que refresca y dinamiza el carácter del grupo. Los miembros del grupo tienen experiencia en varios campos de la investigación relacionada con la Obstetricia y Ginecología, con varias publicaciones internacionales y alianzas con grupos nacionales e internacionales. Dentro de las alianzas más relevantes cuenta con la “European Organization for Research and Treatment of Cancer (EORTC), la Society of European Gynaecological Robotic Surgery (SERGS), cuyo investigador principal es miembro del council, la Asociación Española para el Estudio de la Menopausia (AEEM), cuyo investigador principal es el presiente, La Asociación Española de Patología Cervical y Colposcopia (AEPCC) cuya presidenta es miembro del grupo de investigación, la Sección de Oncología Ginecológica y Patología Mamaria de la SEGO, cuyo tesorero es el investigador principal del grupo, y la Sociedad Española de Cirugía laparoscópica y Robótica (SECLA) con miembros en la junta directiva pertenecientes al grupo de investigación. Como se aprecia, en todas estas organizaciones existe un representante que pertenece al grupo de investigación. Además, debido a la condición universitaria del ISM y del centro, el grupo está comprometido, además de la investigación, con la docencia y en la elaboración de tesis doctorales y trabajos fin de grado en Medicina.
Desde hace más de 20 años nuestra investigación básica y traslacional se ha centrado en el estudio de la función de distintas rutas de transducción de señales en la fisiopatología hepática y en los procesos tumorales. Recientemente, hemos abierto nuevas líneas enfocadas al análisis del papel del microambiente tumoral en la regulación de estado de latencia (“dormancy”) de las células tumorales diseminadas, y la identificación de nuevos genes implicados en los procesos de metástasis mediante cribados genéticos a gran escala. Entre las rutas estudiadas destacan las MAPKs, especialmente p38 MAPKs; el factor de intercambio de nucleótidos, C3G; los receptores tirosina quinasa, en particular, Met y el receptor del EGF; así como algunos miembros de la superfamilia del TGF-beta, concretamente TGF-beta y BMP9, y sus receptores, y las vías de señalización inducidas por las plexinas, neuropilinas y semaforinas.
Como herramientas de estudio usamos distintos modelos in vivo e in vitro, que incluyen modelos de ratón knock-out condicionales (de C3G y Met,) y modelos de ratones transgénicos con sobreexpresión de C3G silvestre o C3G sin el dominio catalítico en plaquetas; y un transgénico que expresa una forma mutante del EGFR específicamente en el hígado; así como células primarias y líneas celulares procedentes de estos modelos o modificadas genéticamente in vitro mediante el uso de shRNAs o la tecnología CRISPR/Cas9, tales como hepatocitos, y células progenitoras adultas hepáticas, y líneas celulares tumorales de distinto tipo y origen. Además, utilizamos modelos preclínicos de crecimiento de tumores y estudio de metástasis en ratones inmunodeprimidos y en la membrana corialantoidea de embriones de pollo.
El grupo también cuenta con una amplia experiencia en la caracterización de los mecanismos moleculares que median las acciones de las señales estudiadas, y la intercomunicación entre diferentes rutas de señalización. En definitiva, el objetivo último de nuestra investigación es contribuir al conocimiento de la red de señales que controlan la fisiopatología hepática, el crecimiento tumoral, el estado de “dormancy” y las metástasis, incluyendo la contribución de las plaquetas y todo el microentorno tumoral, esperando que este conocimiento pueda ser aplicado en la búsqueda de herramientas terapéuticas frente a distintas patologías.
Desde el año 2001 nuestro grupo de a Facultad de Biología de la Universidad Complutense de Madrid ha venido desarrollando una línea de investigación centrada en el estudio de los mecanismos moleculares que subyacen a la acción antitumoral de los cannabinoides. Esa línea ha dado lugar a otras líneas de investigación todas ellas relacionadas con la Oncología traslacional
Mecanismo de acción antitumoral de los cannabinoides
Uno de los objetivos de nuestra investigación es tratar de diseccionar los mecanismos moleculares responsables de la acción antitumoral de los cannabinoides. Dicho objetivo está encaminado, no sólo a optimizar la acción de estos compuestos, sino también a identificar nuevas dianas moleculares que permitan el diseño de estrategias farmacológicas encaminadas a reducir el crecimiento tumoral.
Optimización de la acción antitumoral de los cannabinoides
Una de las principales razones de la elevada mortalidad de muchos tumores (y en particular del glioblastoma multiforme) es su elevada resistencia a los tratamientos convencionales. Por ello, resulta especialmente importante tratar de establecer nuevas terapias selectivas que apliquen la combinación más eficaz de agentes antitumorales a cada paciente y tipo de tumor. Algunos de los proyectos en marcha en nuestro grupo están analizando los factores de resistencia a la acción de los cannabinoides así como desarrollando posibles terapias combinadas que mejoren le eficacia de estos fármacos.
Papel dual de la autofagia en cáncer
Una de las posibles nuevas dianas de acción de fármacos antitumorales que hemos identificado en nuestras investigaciones es la estimulación de la autofagia. La autofagia es un complejo proceso celular que permite la autodigestión de determinados componentes citoplasmáticos y que puede tener tanto un carácter cito-protector como promover la muerte celular. Uno de los proyectos en marcha en el laboratorio pretende determinar los mecanismos reguladores diferenciales que conducen a la estimulación de la muerte mediada por autofagia de las células tumorales. Igualmente estudiamos la implicación de la autofagia en cáncer con especial atención al papel desempeñado por la proteína AMBRA1
Papel de las proteínas Tribbles en cáncer.
Otro de los objetivos de nuestra investigación se ha enfocado al estudio del papel de las pseudoquinasas Triibles y en concreto de uno de los miembros de esta familia; TRIB3. Esta proteína ve aumentados sus niveles tras el tratamiento de células tumorales con cannabinoides lo que conduce a la inhibición del eje AKT/mTORC1 y contribuye a la inducción de la Autofagia. Otra de las líneas de trabajo actualmente en marcha en nuestro grupo se orienta al estudio del papel supresor tumoral de TRIB3 en distintos modelos de cáncer.
